13:30 – 13:35

Welcome & introduction

13.35 - 13:55

Basics of building bone: Insights from genetics

Prof. Emma Duncan, London, UK

The session will focus on the role of genetic technologies in understanding the basics of bone formation and the translation of genetic insights into therapeutic development and clinical management. The presentation will draw upon relevant examples from various bone diseases including fibrodysplasia oosificans progressive (FOP).

13.55 – 14:15

Clinical challenges in Fibrodysplasia Ossificans Progressiva (FOP)

Dr Judith Bubbear, London, UK

The session will focus on the clinical aspects of FOP, an ultra-rare genetic disorder caused by a missense mutation in the ACVR1/ALK 2 gene and characterised by progressive heterotopic ossification in soft tissues. Challenges in clinical management will be elucidated from the perspectives of patients and physicians. The presentation will also demonstrate current therapeutic approaches in development targeting the molecular mechanisms underlying FOP.

14.15 – 14:30

Discussion and Q&A

Speaker Biographies

Prof Emma Duncan, Professor of Clinical Endocrinology, King’s College London

Prof Emma Duncan has been fascinated by endocrinology in general and the skeleton specifically and has published multiple high-impact papers into the genetics of many endocrine disorders, particularly osteoporosis and skeletal dysplasias.  Her practical experience in gene mapping includes genetic epidemiology, linkage, genome-wide association studies, and massively parallel sequencing (MPS) technologies; and she played a pioneering role in the translation of genetic technologies into clinical practice.

Dr Judith Bubbear, Consultant Rheumatologist, Royal National Orthopaedic Hospital, Stanmore, London, UK 

Dr Bubbear runs both Osteoporosis and Metabolic Bone Disease clinics.  She is involved in clinical research, mostly in rare bone diseases, including Osteogenesis Imperfecta, X-linked Hypophophosphataemic rickets and Fibrodysplasia Ossificans Progressiva. 

11:30 - 11:35

Chair’s Introduction

Dr Gavin Clunie, Rheumatologist and Metabolic Bone Physician, Addenbrookes

11:35 - 11:55

Clinical implications of IV iron induced hypophosphataemia

Prof. Heinz Zoller,
Consultant Gastroenterologist,
University Hospital of Innsbruck

11:55 - 12:15

Hypophosphataemia after IV iron infusions: mechanism and management

Prof. Richard Eastell,

Professor of Bone Metabolism,

The University of Sheffield

12:15 - 12:30

Questions for future research

Q&A

Meeting close

Dr Gavin Clunie

Speaker Biographies

Dr Clunie is Consultant Rheumatologist and Metabolic Bone Physician at Cambridge University Hospitals and is Clinical co-lead of the East Anglian Rare Bone Disease Network (ERBoN). He has extensive experience of managing adult patients with XLH and TIO.”

Richard Eastell BSc (Hons), MBChB, MD (Edin), FRCP (London, Edin), FRCPI (Hon), FRCPath, FMedSci, Professor of Bone Metabolism and Director of the Mellanby Centre for Musculoskeletal Research at the University of Sheffield.

Richard qualified in medicine from Edinburgh in 1977.  He trained in endocrinology in Edinburgh, Northwick Park and at the Mayo Clinic (Dr B L Riggs). He leads a research group on the pathogenesis, diagnosis and treatment of osteoporosis; of particular note is his contribution to the use of bone turnover markers and the development of treatments for osteoporosis. He was Secretary and President of the Bone Research Society as well as President of the European Calcified Tissue Society. He is an NIHR Senior Investigator (Emeritus). His work has been recognised by the Philippe Bordier Award (2012) (European Calcified Tissue Society), Frederic C Bartter Award 2014 (American Society for Bone and Mineral Research), Kohn and Linda Edwards Awards from the Royal Osteoporosis Society (2004, 2018), the Clinical Endocrinology Trust Award from the European Society for Endocrinology (2020) and the Dent Lecturer from the Bone Research Society (2021).

Heinz Zoller MD, Gastroenterologist and Hepatologist

Heinz Zoller is a consultant Gastroenterologist and Hepatologist at the University Hospital of Innsbruck since 2008. His clinical areas of special expertise are disorders of iron metabolism and rare genetic diseases of the digestive tract. Heinz Zoller is registered with the Austrian Medical Council as board certified Specialist in Internal Medicine since 2004 and as Gastroenterologist and Hepatologist

since 2008. He was trained from 1998 – 2003 at the Department of Medicine of the Medical University of Innsbruck, Austria and from 2003-2005 at the University of Cambridge’s Addenbrookes Hospital, UK. Additional certifications include a Diploma in Genetics since 2015 and specialization in transplant medicine.

As an associate Professor of Medicine he teaches at the Medical University of Innsbruck and directs research projects with clinical and molecular investigators at the Hepatology Laboratory of the Medical University of Innsbruck. His current research projects aim at understanding why some patients develop hypophosphatemia after receiving IV iron and what the consequences are. Other research projects aim at dissecting the complex genetic interactions that cause decompensation of liver cirrhosis and at the functional consequences of novel genetic defects associated with iron  overload.